Vinodh Narayanan

Vinodh Narayanan

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Vinodh Narayanan

Vinodh Narayanan

Publications by authors named "Vinodh Narayanan"

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51Publications

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.

Semin Pediatr Neurol 2018 07 16;26:28-32. Epub 2017 Aug 16.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ; School of Life Sciences, Arizona State University, Tempe, AZ. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.08.008DOI Listing
July 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

A gain-of-function mutation in the gene causes neurodevelopmental deficits.

Neurol Genet 2017 Feb 31;3(1):e129. Epub 2017 Jan 31.

Department of Pharmacology (Y.F.G., J.R.S., G.T.S.), Northwestern University Feinberg School of Medicine, Chicago, IL; Center for Rare Childhood Disorders (K.R., D.W.C., M.J.H., V.N.), and Neurogenomics Division (K.R., D.W.C., M.J.H., V.N.), Translational Genomics Research Institute, Phoenix, AZ.

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http://dx.doi.org/10.1212/NXG.0000000000000129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5286855PMC
February 2017

Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.

Mov Disord 2016 11 22;31(11):1752-1753. Epub 2016 Sep 22.

Program in Neuroscience, Arizona State University, Tempe, Arizona, USA.

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http://dx.doi.org/10.1002/mds.26800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5380585PMC
November 2016

Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model.

F1000Res 2016 8;5:2269. Epub 2016 Sep 8.

Neurogenomics Division, Translational Genomics Research Institute, Phoenix, USA; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, USA; Barrow Neurological Institute, St.Joseph's Hospital and Medical Center, Phoenix, USA; School of Life Sciences, Arizona State University, Tempe, USA.

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http://dx.doi.org/10.12688/f1000research.8156.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5040159PMC
September 2016

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Handb Clin Neurol 2015 ;132:271-80

Neurology Research, Barrow Neurological Institute, Phoenix, AZ, USA; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA; Arizona Pediatric Neurology and Neurogenetics Associates, Phoenix, AZ, USA. Electronic address:

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http://bjo.bmj.com/content/71/8/629.full.pdf
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http://linkinghub.elsevier.com/retrieve/pii/B978044462702500
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http://dx.doi.org/10.1016/B978-0-444-62702-5.00020-2DOI Listing
August 2016

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.

PLoS One 2015 15;10(7):e0131797. Epub 2015 Jul 15.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0131797PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503302PMC
April 2016

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.

F1000Res 2015 28;4:912. Epub 2015 Sep 28.

Arizona Pediatric Neurology & Neurogenetics Associates, Phoenix, AZ, USA ; Barrow Neurological Institute, Phoenix, AZ, USA ; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA ; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.

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http://dx.doi.org/10.12688/f1000research.7106.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617320PMC
November 2015

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

Invest Ophthalmol Vis Sci 2015 Jun;56(6):3896-904

Dorrance Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, United States 2Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, United States.

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http://dx.doi.org/10.1167/iovs.14-16261DOI Listing
June 2015

Epigenetics, autism spectrum, and neurodevelopmental disorders.

Neurotherapeutics 2013 Oct;10(4):742-56

Developmental Neurogenetics Laboratory, Barrow Neurological Institute, Phoenix, AZ, 85013, USA.

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http://dx.doi.org/10.1007/s13311-013-0227-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3805864PMC
October 2013

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene.

J Child Neurol 2011 Dec 10;26(12):1585-9. Epub 2011 Jul 10.

St Joseph's Hospital and Medical Center, Phoenix, Arizona 85013, USA.

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http://dx.doi.org/10.1177/0883073811412825DOI Listing
December 2011

Genetics and child neurology: what every trainee/resident should know.

Authors:
Vinodh Narayanan

Semin Pediatr Neurol 2011 Jun;18(2):81-4

St Joseph's Hospital and Medical Center, Barrow Neurological Institute, Phoenix, AZ 85013, USA.

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http://dx.doi.org/10.1016/j.spen.2011.05.012DOI Listing
June 2011

Evidence for population variation in TSC1 and TSC2 gene expression.

BMC Med Genet 2011 Feb 23;12:29. Epub 2011 Feb 23.

Neurology Research Department, Barrow Neurological Institute, Phoenix, AZ 85013, USA.

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http://dx.doi.org/10.1186/1471-2350-12-29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3051885PMC
February 2011

Ataxia with oculomotor apraxia.

Semin Pediatr Neurol 2008 Dec;15(4):216-20

Department of Neurology, Children's Health Center, St. Joseph's Hospital and Medical Center, Phoenix, AZ 85013, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S107190910800086
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http://dx.doi.org/10.1016/j.spen.2008.10.014DOI Listing
December 2008

A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.

J Child Neurol 2007 Jun;22(6):744-8

Children's Health Center, St. Joseph's Hospital and Medical Center, Barrow Neurological Institute Phoenix, Arizona, USA.

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http://dx.doi.org/10.1177/0883073807304000DOI Listing
June 2007

Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex.

BMC Neurosci 2006 Mar 8;7:22. Epub 2006 Mar 8.

Developmental Neurogenetics Laboratory, Barrow Neurological Institute, St Joseph's Hospital and Medical Center, Phoenix, AZ 85013, USA.

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http://bmcneurosci.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2202-7-22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1434756PMC
March 2006

Genetic aspects of neurocutaneous disorders.

Semin Pediatr Neurol 2006 Mar;13(1):43-7

Children's Health Center, St. Joseph's Hospital and Medical Center, Barrow Neurological Institute, Phoenix, AZ, USA.

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http://dx.doi.org/10.1016/j.spen.2006.01.010DOI Listing
March 2006

Misplaced peripherally inserted central catheter: an unusual cause of stroke.

Pediatr Neurol 2004 Mar;30(3):210-2

Department of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940300475
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http://dx.doi.org/10.1016/j.pediatrneurol.2003.09.008DOI Listing
March 2004

Tuberous sclerosis complex: genetics to pathogenesis.

Authors:
Vinodh Narayanan

Pediatr Neurol 2003 Nov;29(5):404-9

Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, Arizona 85013, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2003.09.002DOI Listing
November 2003

Friedreich's ataxia.

Pediatr Neurol 2003 May;28(5):335-41

Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1016/s0887-8994(03)00004-3DOI Listing
May 2003